Disease

hyperimmunoglobulinemia D periodic fever syndrome

Definition

A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24.

Synonyms

HYPER-IgD SYNDROME

Cross References

Parent Terms

hyperimmunoglobulin syndrome

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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